SNP Links for Gene (Select 14) - SNP

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Select item 14908868911.

rs1490886891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:218268599 (GRCh38)
2:219133322 (GRCh37)
Canonical SPDI:: NC_000002.12:218268598:T:A,NC_000002.12:218268598:T:C
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00088/25 (TOMMO)
C=0.01027/30 (KOREAN)
HGVS:: NC_000002.12:g.218268599T>A, NC_000002.12:g.218268599T>C, NC_000002.11:g.219133322T>A, NC_000002.11:g.219133322T>C, NG_017060.1:g.3208T>A, NG_017060.1:g.3208T>C, NG_033036.1:g.6572A>T, NG_033036.1:g.6572A>G

Select item 14897973602.

rs1489797360 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:218267146 (GRCh38)
2:219131869 (GRCh37)
Canonical SPDI:: NC_000002.12:218267145:CC:C
Gene:: AAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218267147del, NC_000002.11:g.219131870del, NG_017060.1:g.1756del, NG_033036.1:g.8025del

Select item 14897693173.

rs1489769317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218265300 (GRCh38)
2:219130023 (GRCh37)
Canonical SPDI:: NC_000002.12:218265299:C:A,NC_000002.12:218265299:C:T
Gene:: AAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.218265300C>A, NC_000002.12:g.218265300C>T, NC_000002.11:g.219130023C>A, NC_000002.11:g.219130023C>T, NG_033036.1:g.9871G>T, NG_033036.1:g.9871G>A

Select item 14894855744.

rs1489485574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218269535 (GRCh38)
2:219134258 (GRCh37)
Canonical SPDI:: NC_000002.12:218269534:C:T
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218269535C>T, NC_000002.11:g.219134258C>T, NG_017060.1:g.4144C>T, NG_033036.1:g.5636G>A, NM_001302545.2:c.124G>A, NM_001302545.1:c.124G>A, NP_001289474.1:p.Asp42Asn

Select item 14892422385.

rs1489242238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218269363 (GRCh38)
2:219134086 (GRCh37)
Canonical SPDI:: NC_000002.12:218269362:G:T
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218269363G>T, NC_000002.11:g.219134086G>T, NG_017060.1:g.3972G>T, NG_033036.1:g.5808C>A

Select item 14892110346.

rs1489211034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218266187 (GRCh38)
2:219130910 (GRCh37)
Canonical SPDI:: NC_000002.12:218266186:C:T
Gene:: AAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218266187C>T, NC_000002.11:g.219130910C>T, NG_017060.1:g.796C>T, NG_033036.1:g.8984G>A

Select item 14882913287.

rs1488291328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218264389 (GRCh38)
2:219129112 (GRCh37)
Canonical SPDI:: NC_000002.12:218264388:G:A
Gene:: AAMP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.218264389G>A, NC_000002.11:g.219129112G>A, NG_033036.1:g.10782C>T, NM_001087.5:c.*144C>T, NM_001087.4:c.*144C>T, NM_001087.3:c.*144C>T, NM_001302545.2:c.*144C>T, NM_001302545.1:c.*144C>T

Select item 14882320988.

rs1488232098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218263854 (GRCh38)
2:219128577 (GRCh37)
Canonical SPDI:: NC_000002.12:218263853:G:A
Gene:: AAMP (Varview), GPBAR1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218263854G>A, NC_000002.11:g.219128577G>A, NG_033036.1:g.11317C>T, NM_170699.3:c.*137G>A, NM_170699.2:c.*137G>A, NM_001077191.2:c.*137G>A, NM_001077191.1:c.*137G>A, NM_001321950.2:c.*137G>A, NM_001321950.1:c.*137G>A, NM_001077194.2:c.*137G>A, NM_001077194.1:c.*137G>A, XM_011510743.1:c.*137G>A

Select item 14877287949.

rs1487728794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218268885 (GRCh38)
2:219133608 (GRCh37)
Canonical SPDI:: NC_000002.12:218268884:G:A
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.218268885G>A, NC_000002.11:g.219133608G>A, NG_017060.1:g.3494G>A, NG_033036.1:g.6286C>T

Select item 148702509910.

rs1487025099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218268117 (GRCh38)
2:219132840 (GRCh37)
Canonical SPDI:: NC_000002.12:218268116:C:A,NC_000002.12:218268116:C:T
Gene:: AAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003456/41 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000418/7 (TOMMO)
T=0.00137/4 (KOREAN)
HGVS:: NC_000002.12:g.218268117C>A, NC_000002.12:g.218268117C>T, NC_000002.11:g.219132840C>A, NC_000002.11:g.219132840C>T, NG_017060.1:g.2726C>A, NG_017060.1:g.2726C>T, NG_033036.1:g.7054G>T, NG_033036.1:g.7054G>A

Select item 148647342011.

rs1486473420 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:218271541 (GRCh38)
2:219136264 (GRCh37)
Canonical SPDI:: NC_000002.12:218271540:A:
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218271541del, NC_000002.11:g.219136264del, NG_017060.1:g.6150del, NM_015488.5:c.228del, NM_015488.4:c.228del, NM_001077399.3:c.228del, NM_001077399.2:c.228del, NG_033036.1:g.3630del, XM_017003771.2:c.228del, XM_017003771.1:c.228del, NP_056303.3:p.Leu77fs, NP_001070867.1:p.Leu77fs, XP_016859260.1:p.Leu77fs

Select item 148640896912.

rs1486408969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218270450 (GRCh38)
2:219135173 (GRCh37)
Canonical SPDI:: NC_000002.12:218270449:G:A
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.218270450G>A, NC_000002.11:g.219135173G>A, NG_017060.1:g.5059G>A, NG_033036.1:g.4721C>T, NM_015488.4:c.-86G>A, NM_001077399.2:c.-86G>A

Select item 148632606413.

rs1486326064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218265396 (GRCh38)
2:219130119 (GRCh37)
Canonical SPDI:: NC_000002.12:218265395:G:A
Gene:: AAMP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.218265396G>A, NC_000002.11:g.219130119G>A, NG_017060.1:g.5G>A, NG_033036.1:g.9775C>T, NM_001087.5:c.1049C>T, NM_001087.4:c.1049C>T, NM_001087.3:c.1049C>T, NM_001302545.2:c.1052C>T, NM_001302545.1:c.1052C>T, NP_001078.2:p.Thr350Ile, NP_001289474.1:p.Thr351Ile

Select item 148608991314.

rs1486089913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218270799 (GRCh38)
2:219135522 (GRCh37)
Canonical SPDI:: NC_000002.12:218270798:C:T
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218270799C>T, NC_000002.11:g.219135522C>T, NG_017060.1:g.5408C>T, NG_033036.1:g.4372G>A

Select item 148591078715.

rs1485910787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:218263946 (GRCh38)
2:219128670 (GRCh37)
Canonical SPDI:: NC_000002.12:218263946:T:TT
Gene:: AAMP (Varview), GPBAR1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218263947dup, NC_000002.11:g.219128670dup, NG_033036.1:g.11224dup

Select item 148579555816.

rs1485795558 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATCTGAACATGGCGGCGGTGG [Show Flanks]
Chromosome:: 2:218270521 (GRCh38)
2:219135245 (GRCh37)
Canonical SPDI:: NC_000002.12:218270521:GGTGGGATCTGAACATGGCGGCGGTGG:GGTGGGATCTGAACATGGCGGCGGTGGGATCTGAACATGGCGGCGGTGG
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,initiator_codon_variant
Validated:: by frequency,by alfa
MAF:: GGTGGGATCTGAACATGGCGGCGGTGGGATCTGAACATGGCGGCGGTGG=0./0 (ALFA)
HGVS:: NC_000002.12:g.218270527_218270548dup, NC_000002.11:g.219135250_219135271dup, NG_017060.1:g.5136_5157dup, NM_015488.5:c.-9_13dup, NM_015488.4:c.-9_13dup, NM_001077399.3:c.-9_13dup, NM_001077399.2:c.-9_13dup, NG_033036.1:g.4628_4649dup, XM_017003771.2:c.-9_13dup, XM_017003771.1:c.-9_13dup

Select item 148514227717.

rs1485142277 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:218264972 (GRCh38)
2:219129695 (GRCh37)
Canonical SPDI:: NC_000002.12:218264971:CC:C
Gene:: AAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218264973del, NC_000002.11:g.219129696del, NG_033036.1:g.10199del

Select item 148512128518.

rs1485121285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:218267580 (GRCh38)
2:219132303 (GRCh37)
Canonical SPDI:: NC_000002.12:218267579:G:A,NC_000002.12:218267579:G:C
Gene:: AAMP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218267580G>A, NC_000002.12:g.218267580G>C, NC_000002.11:g.219132303G>A, NC_000002.11:g.219132303G>C, NG_017060.1:g.2189G>A, NG_017060.1:g.2189G>C, NG_033036.1:g.7591C>T, NG_033036.1:g.7591C>G, NM_001087.5:c.308C>T, NM_001087.5:c.308C>G, NM_001087.4:c.308C>T, NM_001087.4:c.308C>G, NM_001087.3:c.308C>T, NM_001087.3:c.308C>G, NM_001302545.2:c.311C>T, NM_001302545.2:c.311C>G, NM_001302545.1:c.311C>T, NM_001302545.1:c.311C>G, NP_001078.2:p.Thr103Ile, NP_001078.2:p.Thr103Ser, NP_001289474.1:p.Thr104Ile, NP_001289474.1:p.Thr104Ser

Select item 148491992619.

rs1484919926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218270229 (GRCh38)
2:219134952 (GRCh37)
Canonical SPDI:: NC_000002.12:218270228:G:A
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218270229G>A, NC_000002.11:g.219134952G>A, NG_017060.1:g.4838G>A, NG_033036.1:g.4942C>T

Select item 148407061920.

rs1484070619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218269716 (GRCh38)
2:219134439 (GRCh37)
Canonical SPDI:: NC_000002.12:218269715:G:A
Gene:: AAMP (Varview), PNKD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218269716G>A, NC_000002.11:g.219134439G>A, NG_017060.1:g.4325G>A, NG_033036.1:g.5455C>T

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